| 基因名 | 突变 |
|---|---|
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74272770G>A,c.4846C>T,p.R1616X |
| QRICH1(NM_017730,glutamine-rich 1,776aa) | g.3:49095218T>G,c.415A>C,p.I139L |
| QRICH1(NM_017730,glutamine-rich 1,776aa) | g.3:49095178T>G,c.455A>C,p.Q152P |
| QRICH1(NM_017730,glutamine-rich 1,776aa) | g.3:49067904T>C,c.2312A>G,p.N771S |
| QRFPR(NM_198179,pyroglutamylated RFamide peptide receptor,431aa) | g.4:122301649C>T,c.154G>A,p.G52S |
| QRFPR(NM_198179,pyroglutamylated RFamide peptide receptor,431aa) | g.4:122301622A>C,c.181T>G,p.F61V |
| QRFPR(NM_198179,pyroglutamylated RFamide peptide receptor,431aa) | g.4:122301601A>G,c.202T>C,p.Y68H |
| QRFPR(NM_198179,pyroglutamylated RFamide peptide receptor,431aa) | g.4:122301597A>C,c.206T>G,p.V69G |
| QRFPR(NM_198179,pyroglutamylated RFamide peptide receptor,431aa) | g.4:122301595C>A,c.208G>T,p.V70L |
| QRFPR(NM_198179,pyroglutamylated RFamide peptide receptor,431aa) | g.4:122261659A>C,c.447T>G,p.H149Q |
| QRFPR(NM_198179,pyroglutamylated RFamide peptide receptor,431aa) | g.4:122254025C>A,c.748G>T,p.G250C |
| QRFPR(NM_198179,pyroglutamylated RFamide peptide receptor,431aa) | g.4:122250734A>G,c.1031T>C,p.L344S |
| QRFPR(NM_198179,pyroglutamylated RFamide peptide receptor,431aa) | g.4:122250654G>A,c.1111C>T,p.R371W |
| QRFPR(NM_198179,pyroglutamylated RFamide peptide receptor,431aa) | g.4:122250623T>C,c.1142A>G,p.N381S |
| QRFP(NM_198180,pyroglutamylated RFamide peptide,136aa) | g.9:133769023A>T,c.203T>A,p.L68H |
| QRFP(NM_198180,pyroglutamylated RFamide peptide,136aa) | g.9:133768987T>C,c.239A>G,p.E80G |
| QRFP(NM_198180,pyroglutamylated RFamide peptide,136aa) | g.9:133768966C>T,c.260G>A,p.R87H |
| QRFP(NM_198180,pyroglutamylated RFamide peptide,136aa) | g.9:133768961C>T,c.265G>A,p.G89R |
| QRFP(NM_198180,pyroglutamylated RFamide peptide,136aa) | g.9:133768949C>T,c.277G>A,p.E93K |
| QRFP(NM_198180,pyroglutamylated RFamide peptide,136aa) | g.9:133768823G>A,c.403C>T,p.R135W |
| QRFP(NM_198180,pyroglutamylated RFamide peptide,136aa) | g.9:133768819C>T,c.407G>A,p.R136Q |
| QPRT(NM_014298,quinolinate phosphoribosyltransferase,297aa) | g.16:29708350A>G,c.583A>G,p.T195A |
| QPRT(NM_014298,quinolinate phosphoribosyltransferase,297aa) | g.16:29706444C>T,c.473C>T,p.A158V |
| QPRT(NM_014298,quinolinate phosphoribosyltransferase,297aa) | g.16:29706252C>T,c.281C>T,p.A94V |
| QPCT(NM_012413,glutaminyl-peptide cyclotransferase,361aa) | g.2:37599963A>C,c.1079A>C,p.H360P |
| QPCT(NM_012413,glutaminyl-peptide cyclotransferase,361aa) | g.2:37599915T>C,c.1031T>C,p.I344T |
| QPCT(NM_012413,glutaminyl-peptide cyclotransferase,361aa) | g.2:37599896A>C,c.1012A>C,p.N338H |
| QPCT(NM_012413,glutaminyl-peptide cyclotransferase,361aa) | g.2:37599863G>A,c.979G>A,p.E327K |